Global Patent Index - EP 2112234 A3

EP 2112234 A3 20100616 - Loci for idiopathic generalized epilepsy, mutations thereof and method using same to assess, diagnose, prognose or treat epilepsy

Title (en)

Loci for idiopathic generalized epilepsy, mutations thereof and method using same to assess, diagnose, prognose or treat epilepsy

Title (de)

Loci für idiopathisch generalisierte Epilepsie, Mutationen davon und Verfahren zur Verwendung davon zur Beurteilung, Diagnose, Prognose oder Behandlung von Epilepsie

Title (fr)

Locus de l'épilepsie idiopathique généralisée, mutations correspondantes et procédé les utilisant pour évaluer, diagnostiquer, pronostiquer ou traiter l'épilepsie

Publication

EP 2112234 A3 20100616 (EN)

Application

EP 09167501 A 20001124

Priority

  • EP 00981103 A 20001124
  • US 16762399 P 19991126

Abstract (en)

[origin: WO0138564A2] The present invention relates to epilepsy. More particularly, the present invention relates to idiopathic generalized epilepsy (IGE) and to the identification of three genes mapping to chromosome 2, which show mutations in patients with epilepsy. The invention further relates to nucleic acid sequences, and protein sequences of these loci (SCNA) and to the use thereof to assess, diagnose, prognose or treat epilepsy, to predict an epileptic individual's response to medication and to identify agents which modulate the function of the SCNA. The invention provides screening assays using SCN1A, SCN2A and/or SCN3A which can identify compounds which have therapeutic benefit for epilepsy and related neurological disorders. In a particular embodiment, the invention provides a method for identifying, from a library of compounds, a compound with therapeutic effect on epilepsy or other neurological disorders comprising: providing a screening assay comprising a measurable biological activity of SCN1A, SCN2A or SCN3A protein or gene; contacting this screening assay with a test compound; and detecting if the test compound modulates the biological activity of SCN1A, SCN2A or SCN3A protein or gene; wherein a test compound which modulates the biological activity thereof is a compound with the desired therapeutic effect.

IPC 8 full level

C12Q 1/68 (2006.01); G01N 33/50 (2006.01); A61K 45/00 (2006.01); A61P 25/08 (2006.01); A61P 43/00 (2006.01); C07H 21/04 (2006.01); C07K 14/705 (2006.01); C12N 15/09 (2006.01); C12P 19/34 (2006.01); C12Q 1/6883 (2018.01); G01N 33/15 (2006.01); G01N 33/53 (2006.01); G01N 33/566 (2006.01); G01N 37/00 (2006.01)

CPC (source: EP US)

A61P 25/08 (2017.12 - EP); A61P 43/00 (2017.12 - EP); C12Q 1/6883 (2013.01 - EP US); C12Q 2600/156 (2013.01 - EP US)

Citation (search report)

  • [X] "Homo sapiens BAC clone RP11-2I8 from 2, complete sequence", EMBL-EBI, 14 September 1999 (1999-09-14), XP007902202
  • [X] "Human voltage-gated sodium channel mRNA, complete cds", EMBL-EBI, 7 October 1992 (1992-10-07), XP007902201
  • [X] "Homo sapiens voltage-gated sodium channel, subtype III (SCN3A) mRNA, alternatively spliced adult isoform, partial cds", EMBL-EBI, 7 December 1997 (1997-12-07), XP007902200
  • [X] MALO M S ET AL: "LOCALIZATION OF A PUTATIVE HUMAN BRAIN SODIUM CHANNEL GENE (SCN1A) TO CHROMOSOME BAND 2Q24", CYTOGENETICS AND CELL GENETICS, BASEL, CH, vol. 67, no. 3, 1 January 1994 (1994-01-01), pages 178 - 186, XP000603748, ISSN: 0301-0171
  • [X] MALO M S ET AL: "TARGETED GENE WALKING BY LOW STRINGENCY POLYMERASE CHAIN REACTION: ASSIGNMENT OF A PUTATIVE HUMAN BRAIN SODIUM CHANNEL GENE (SCN3A) TO CHROMOSOME 2Q24-31", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES (PNAS), NATIONAL ACADEMY OF SCIENCE, US LNKD- DOI:10.1073/PNAS.91.8.2975, vol. 91, no. 8, 12 April 1994 (1994-04-12), pages 2975 - 2979, XP002051362, ISSN: 0027-8424
  • [XP] XIE X ET AL: "Electrophysiological and pharmacological properties of the human brain type IIA Na+ channel expressed in a stable mammalian cell line.", PFLÜGERS ARCHIV : EUROPEAN JOURNAL OF PHYSIOLOGY JAN 2001 LNKD- PUBMED:11212204, vol. 441, no. 4, 8 November 2000 (2000-11-08), pages 425 - 433, XP009132588, ISSN: 0031-6768
  • [XY] AHMED C M I ET AL: "PRIMARY STRUCTURE CHROMOSOMAL LOCALIZATION AND FUNCTIONAL EXPRESSION OF A VOLTAGE-GATED SODIUM CHANNEL", 19920101, vol. 89, no. 17, 1 January 1992 (1992-01-01), pages 8220 - 8224, XP002170647
  • [XY] DUPERE JOE R B ET AL: "The anticonvulsant BW534U87 depresses epileptiform activity in rat hippocampal slices by an adenosine-dependent mechanism and through inhibition of voltage-gated Na+ channels", BRITISH JOURNAL OF PHARMACOLOGY, vol. 128, no. 5, 1 November 1999 (1999-11-01), pages 1011 - 1020, XP009132583, ISSN: 0007-1188
  • [XY] CLARE J J ET AL: "Cloning and functional analysis of the type III Na+ channel from human brain.", ANNALS OF THE NEW YORK ACADEMY OF SCIENCES 30 APR 1999 LNKD- PUBMED:10414284, vol. 868, 30 April 1999 (1999-04-30), pages 80 - 83, XP009132587, ISSN: 0077-8923
  • [IP] ESCAYG ANDREW ET AL: "MUTATIONS OF SCN1A, ENCODING A NEURONAL SODIUM CHANNEL, IN TWO FAMILIES WITH GEFS+2", NATURE GENETICS, NATURE PUBLISHING GROUP, NEW YORK, US LNKD- DOI:10.1038/74159, vol. 24, no. 4, 1 January 2000 (2000-01-01), pages 343 - 345, XP001009967, ISSN: 1061-4036
  • [A] RAGSDALE D S ET AL: "Sodium channels as molecular targets for antiepileptic drugs.", BRAIN RESEARCH. BRAIN RESEARCH REVIEWS MAR 1998 LNKD- PUBMED:9600622, vol. 26, no. 1, March 1998 (1998-03-01), pages 16 - 28, XP009132556

Designated contracting state (EPC)

AT BE CH CY DE DK ES FI FR GB GR IE IT LI LU MC NL PT SE TR

DOCDB simple family (publication)

WO 0138564 A2 20010531; WO 0138564 A3 20011108; AU 1846501 A 20010604; AU 2007201976 A1 20070621; AU 2007201976 B2 20110929; AU 2007201991 A1 20070614; AU 2011201761 A1 20110512; AU 2014203437 A1 20140807; AU 2014203437 B2 20161117; CA 2394229 A1 20010531; CA 2394229 C 20100413; DE 1252330 T1 20031127; EP 1252330 A2 20021030; EP 2112234 A2 20091028; EP 2112234 A3 20100616; JP 2004512812 A 20040430; JP 2007185199 A 20070726; JP 4048053 B2 20080213; US 2004096885 A1 20040520; US 2004096886 A1 20040520; US 2004214195 A1 20041028; US 2009148855 A1 20090611; US 2010092990 A1 20100415; US 7485449 B2 20090203; US 7528093 B2 20090505; US 7655460 B2 20100202; US 7951931 B2 20110531; US 8143005 B2 20120327

DOCDB simple family (application)

CA 0001404 W 20001124; AU 1846501 A 20001124; AU 2007201976 A 20070427; AU 2007201991 A 20070427; AU 2011201761 A 20110419; AU 2014203437 A 20140624; CA 2394229 A 20001124; DE 00981103 T 20001124; EP 00981103 A 20001124; EP 09167501 A 20001124; JP 2001539906 A 20001124; JP 2007109815 A 20070418; US 36416609 A 20090202; US 63721909 A 20091214; US 66442203 A 20030917; US 66442303 A 20030917; US 66460303 A 20030917